Linked Data
dbSNP Id:
rs757035537
gnomAD v2:
6-112081512-CCT-C
gnomAD v3:
6-111760309-CCT-C
gnomAD v4:
6-111760309-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111760312_111760313del , CM000668.2:g.111760312_111760313del | GRCh38 |
| NC_000006.11:g.112081515_112081516del , CM000668.1:g.112081515_112081516del | GRCh37 |
| NC_000006.10:g.112188208_112188209del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368682.8:c.-12+20255_-12+20256del | ENSP00000357671.3:n.-12+20255_-12+20256de... | |
| ENST00000354650.7:c.-12+20255_-12+20256del MANE Select | ENSP00000346671.3:n.-12+20255_-12+20256de... | |
| ENST00000368667.6:c.-12+20255_-12+20256del | ENSP00000357656.2:n.-12+20255_-12+20256de... | |
| ENST00000368678.8:c.-11-40249_-11-40248del | ENSP00000357667.4:n.-11-40249_-11-40248de... | |
| ENST00000368682.7:c.-12+20255_-12+20256del | ENSP00000357671.3:n.-12+20255_-12+20256de... | |
| ENST00000462598.7:c.-255-5634_-255-5633del | ENSP00000429590.2:n.-255-5634_-255-5633de... | |
| ENST00000484067.6:c.-12+20255_-12+20256del | ENSP00000428983.1:n.-12+20255_-12+20256de... | |
| ENST00000487824.2:c.-12+20255_-12+20256del | ENSP00000430455.1:n.-12+20255_-12+20256de... | |
| ENST00000518295.5:c.-128-19214_-128-19213del | ENSP00000428695.1:n.-128-19214_-128-19213... | |
| ENST00000518630.5:c.-12+20255_-12+20256del | ENSP00000429813.1:n.-12+20255_-12+20256de... | |
| ENST00000520518.5:c.-124-19218_-124-19217del | ENSP00000429294.1:n.-124-19218_-124-19217... | |
| ENST00000521062.5:c.-12+20255_-12+20256del | ENSP00000428042.1:n.-12+20255_-12+20256de... | |
| ENST00000521361.5:n.317+20255_317+20256del | ||
| ENST00000523238.5:c.-12+20255_-12+20256del | ENSP00000430364.1:n.-12+20255_-12+20256de... | |
| ENST00000523570.5:c.-12+20255_-12+20256del | ENSP00000428045.1:n.-12+20255_-12+20256de... | |
| ENST00000523574.5:c.-12+20255_-12+20256del | ENSP00000429992.1:n.-12+20255_-12+20256de... | |
| ENST00000524310.5:c.-12+20255_-12+20256del | ENSP00000428493.1:n.-12+20255_-12+20256de... | |
| NM_002037.5:c.-12+20255_-12+20256del MANE Select | NP_002028.1:n.-12+20255_-12+20256del | |
| XM_005266890.2:c.-12+20255_-12+20256del | XP_005266947.1:n.-12+20255_-12+20256del | |
| XM_005266892.2:c.-12+20255_-12+20256del | XP_005266949.1:n.-12+20255_-12+20256del | |
| XM_011535662.1:c.-12+20255_-12+20256del | XP_011533964.1:n.-12+20255_-12+20256del | |
| XM_011535663.1:c.-12+20255_-12+20256del | XP_011533965.1:n.-12+20255_-12+20256del | |
| XM_011535664.1:c.-12+20255_-12+20256del | XP_011533966.1:n.-12+20255_-12+20256del | |
| XM_011535665.1:c.-12+20255_-12+20256del | XP_011533967.1:n.-12+20255_-12+20256del | |
| XM_005266890.4:c.-12+20255_-12+20256del | XP_005266947.1:n.-12+20255_-12+20256del | |
| XM_005266892.4:c.-12+20255_-12+20256del | XP_005266949.1:n.-12+20255_-12+20256del | |
| XM_017010650.1:c.-12+20255_-12+20256del | XP_016866139.1:n.-12+20255_-12+20256del | |
| XM_017010651.1:c.-12+20255_-12+20256del | XP_016866140.1:n.-12+20255_-12+20256del | |
| XM_017010655.2:c.-12+20255_-12+20256del | XP_016866144.1:n.-12+20255_-12+20256del | |
| NM_153047.4:c.-12+20255_-12+20256del | NP_694592.1:n.-12+20255_-12+20256del |